Germline PALB2 Gene Mutation

Preferred Label : Germline PALB2 Gene Mutation;

NCIt synonyms : Germline Fanconi Anemia, Complementation Group N Gene Mutation; Germline PNCA3 Gene Mutation; Germline Partner and Localizer of BRCA2 Gene Mutation; Germline FANCN Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the PALB2 gene that originates in the gametes.;

NCI Metathesaurus CUI : CL1922635;

Details

Origin ID

C203397;

UMLS CUI

C5909221;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- DNA Repair Gene [NCIt concept]
- FA Complementation Group Gene [NCIt concept]
- PALB2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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